Mutations in dynamin 2 cause dominant centronuclear myopathy (original) (raw)

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Acknowledgements

We thank the affected individuals and their families for their participation in this study, J.P. Leroy and J.L. Mandel for continuous support, E. Ralston for comments and suggestions on the manuscript, A. Rouche for assistance with immunohistochemistry and C. Lacroix for providing a DNA sample. This work was supported by the Institut National de la Santé et de la Recherche Médicale, the Centre National de la Recherche Scientifique, the Hôpital Universitaire de Strasbourg, the Collège de France and the Association Française contre les Myopathies. H.L. is member of the German Muscular Dystrophy Network supported by the German Ministry of Education and Research. P.-Y.J. was a recipient of a fellowship from the Swiss Foundation for Research on Muscle Diseases. A.H.B. was supported by a grant from the US National Institutes of Health and the Joshua Frase Foundation. M.B. was the recipient of an Association Française contre les Myopathies fellowship.

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Authors and Affiliations

  1. INSERM U582, Institute of Myology, IFR14, Groupe Hospitalier Pitié-Salpêtrière, UPMC, 47 Boulevard de l'Hôpital, 75651, Paris Cedex 13, France
    Marc Bitoun, Svetlana Maugenre, Emmanuelle Lacène, Pascal Laforêt, Michel Fardeau, Bruno Eymard, Norma B Romero & Pascale Guicheney
  2. Department of Pediatrics, Neuropediatric Unit, CHUV, Lausanne, Switzerland
    Pierre-Yves Jeannet
  3. Department of Neurology, CHU Haut-Lévêque, Bordeaux, France
    Xavier Ferrer
  4. Laboratory of Neuropathology, Born-Bunge Institute, Antwerp, Belgium
    Jean-Jacques Martin
  5. Department of Molecular Pathology, I.G.B.M.C., CNRS/INSERM/ULP/Collège de France, Illkirch, France
    Jocelyn Laporte
  6. Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University, Munich, Germany
    Hanns Lochmüller
  7. Genetics Division, Children's Hospital Boston, Harvard Medical School, Boston, USA
    Alan H Beggs

Authors

  1. Marc Bitoun
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  2. Svetlana Maugenre
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  3. Pierre-Yves Jeannet
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  4. Emmanuelle Lacène
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  5. Xavier Ferrer
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  6. Pascal Laforêt
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  7. Jean-Jacques Martin
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  8. Jocelyn Laporte
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  9. Hanns Lochmüller
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  10. Alan H Beggs
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  11. Michel Fardeau
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  12. Bruno Eymard
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  13. Norma B Romero
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  14. Pascale Guicheney
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Corresponding author

Correspondence toPascale Guicheney.

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The authors declare no competing financial interests.

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Bitoun, M., Maugenre, S., Jeannet, PY. et al. Mutations in dynamin 2 cause dominant centronuclear myopathy.Nat Genet 37, 1207–1209 (2005). https://doi.org/10.1038/ng1657

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